Mutation

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MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

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The researchers suggested that the primary mutation sensitises an individual to a particular disorder and that the genetic background sets the trajectory for potential clinical features.

Family genetics vital to understand autism progression

In exon 21, six mutation types were all point mutations, and mainly was L861Q.

Clinical Analysis of Uncommon Epidermal Growth Factor Receptor Mutations in 16 Cases of Nonsmall Cell Lung Cancer

Vertex Pharmaceuticals announced that Health Canada approved PrSYMDEKO for treating the underlying cause of cystic fibrosis in people ages 12 and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene, or who have one copy of the F508del mutation and one mutation in the CFTR gene.

Vertex announces approval for PrSymdeko by Health Canada

Most common mutation in rpoB was S531L in 75 (77%) isolates followed by D516V in 10 (10%) and H526Y in 6 (6%) samples respectively.

Molecular Characterization and Spoligotyping Analysis of Multi Drug Resistant Mycobacterium tuberculosis from a High TB Endemic Area of Pakistan

CF is caused by mutation in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR; #602421) gene which encodes a small ATP- and cAMP-dependent chloride channel placed on the apical border of epithelial cells of intestine, respiratory systems, pancreas, gall bladder, and sweat glands (1).

CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations

On the other hand, the spontaneous mutations in the germline of the putative father at any genetic marker locus used in the analysis can lead to an erroneous exclusion because such mutation results in differences between the parent and offspring.

Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples

FMF is known as an autosomal recessive hereditary disease with different clinical presentation due to type of mutation, i.e., homozygote or heterozygote pattern.

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

"In addition to scientists studying shared genetic mutations across large groups of individuals, here we're applying a set of smart, sophisticated tools that tell us what any specific mutation is going to do, even those that are rare or never observed before."

New Causes of Autism Found in 'Junk' DNA

PCR for NPM1 mutation was performed using complimentary DNA by Amplification Refractory Mutation System Methodology.

Clinico-Haematologic association and prognostic relevance of NPM1 and FLT3-ITD mutations in acute Myeloid Leukaemia

(1) These include epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) (gefitinib, erlotinib, and afatinib) for EGFR mutations, combined dabrafenib (BRAF inhibitor) and trametinib (MEK inhibitor) for BRAF p.V600E mutation, and ALK tyrosine kinase inhibitors (crizotinib, ceritinib, and alectinib) for ALK translocations.

Clinical Validation of Coexisting Activating Mutations Within EGFR, Mitogen-Activated Protein Kinase, and Phosphatidylinositol 3-Kinase Pathways in Lung Cancers

Using the mutation patterns in the hematopoietic stem and progenitor cells (HSPCs) the team was able to trace the developmental lineage tree of the cells.

Healthy Blood Stem Cells Have As Many DNA Mutations As Leukemic Cells

Using the mutation patterns in the hematopoietic stem and progenitor cells (HSPCs) the team was able to trace the developmental lineage tree of the cells.shown that the number of mutations in healthy and leukemic blood stem cells does not differ.